An induced pluripotent stem cell line (GZHMCi003-A) derived from a fetus with exon 3 heterozygous deletion in RUNX2 gene causing cleidocranial dysplasia
Min Chen, Sheng Mou Lin, Nan Li, Yingting Li, Yufan Li, Luting Zhang
Journal：Stem Cell Research
IF：2.02
DOI：10.1016/j.scr.2021.102166
PMID：33477036
Published：2021-01-09
research field：海洋天然产物生药学胃肠病学微生物学药物发现真菌次级代谢产物抗炎研究
Abstract
Cleidocranial dysplasia (CCD; MIM #119600) is an autosomal dominant genetic disorder caused by heterozygous loss-of-function mutation of the RUNX2 gene, which is important in the differentiation of osteoblasts and maturation of chondrocytes. In this study, we generated an induced pluripotent stem cell line GZHMCi003-A derived from umbilical cord blood mononuclear cells (UCBMCs) of a fetus with heterozygous deletion of the exon 3 in RUNX2 gene. This iPSC line is an ideal in vitro model to study the pathological mechanism and the treatment of CCD.
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